Cardio-Facio-Cutaneous Syndrome, Costello Syndrome, Noonan Syndrome, RASopathy
Conditions
Brief summary
RASopathies are a group of syndromes, caused by variants of genes involved in the regulation of the Ras/MAP/ERK pathway. This intracellular transduction pathway profoundly affects embryogenic development, organogenesis, synaptic plasticity and neuronal growth. RASopathies are characterized by multi-organ involvement, growth delay, premature aging and haemato-oncological manifestations. Based on evidences provided by literature, cancer screening protocols are applied in some individuals affected by RASopathies, even though detailed information about prevalence and molecular pathogenesis of such tumors is still not clearly elucidate.
Detailed description
To define the prevalence of solid (non-haematological) neoplasms in a monocentric cohort of patients affected by RASopathies To perform Next Generation Sequencing (NGS) analysis on tissue samples to preliminarily characterize the molecular pathogenesis of solid tumors in these patients' categories.
Interventions
DIAGNOSTIC_TESTMolecular characterization of solid tumor in RASopathies
NGS analysis on tumor sample
Sponsors
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* Clinical and molecularly confirmed diagnosis of a RASopathy
Exclusion criteria
* Clinical diagnosis of RASopathy without molecular characterization
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of solid tumors in RASopathies | 5 years | To detect prevalence of solid tumors in monocentric cohort of RASopathies |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Molecular characterization of solid tumors in RASopathies | 5 years | NGS analysis on tumor tissue samples |
Countries
Italy
Contacts
Primary ContactChiara Leoni, MD, PhD
Outcome results
None listed